On February 29, 2008, the European Rare Disease Organization initiated and organized the first International Rare Disease Day. Subsequently, at the call of rare disease organizations in various countries, the last day of February each year was designated as International Rare Disease Day. February 28, 2023 is the 16th International Rare Disease Day, with the theme of "Light up the Color of Your Life".
International Rare Disease Day is to call on social groups and organizations around the world to pay wide attention to the vast number of rare disease patients and family communities, and to provide them with help within their capacity. Moreover, the promotion activities of Rare Disease Day have also made the international community more aware of the rare disease group, which is conducive to the discovery and early diagnosis and treatment of rare diseases.
Currently, there are more than 7,000 known rare diseases in the world, and 80% of rare diseases have pathogenic factors such as genetic defects, and hereditary rare diseases are mostly single-gene genetic diseases. Due to the huge population base, there are about 20 million patients with rare diseases in China, and more than 200,000 new patients with rare diseases are born each year. The clinical diagnosis and treatment of patients with rare diseases in China generally face practical problems such as difficult diagnosis and high treatment costs.
Due to the small number of patients with rare diseases, only about 5% to 10% of known rare diseases in the world have drugs to treat them. Among the 121 diseases listed in the Chinese rare disease catalog, 47 have no treatment drugs in the world, and only 36 have clear treatment drugs in China. However, most of the drugs for these rare diseases can only improve symptoms and prolong life. For patients with rare diseases, being able to have the same quality of life and life span as ordinary people is a multi-level problem limited by the level of biotechnology development and social factors.
It is gratifying that with the rapid development and widespread application of genomics and related biotechnology, more and more companies have begun to enter and deploy drug research and development in the field of rare disease treatment. As one of the earliest gene therapy drug R&D companies in China that focuses on the treatment and rehabilitation of rare diseases and the research of its key delivery technology AAV vector, the GeneCradle team has developed more than a dozen gene therapy drugs for rare diseases, and three projects have obtained drug clinical trial (IND) approval from the Drug Review Center of the National Medical Products Administration. Among them, GC101 injection for the treatment of spinal muscular atrophy and GC301 injection for the treatment of Pompe disease have fully entered the clinical trial stage: GC101 injection is the first gene therapy drug in China to adopt the intramyelin administration strategy, and GC301 injection is the first AAV-delivered gene therapy drug for the treatment of infantile Pompe disease in the world. Compared with maintenance therapy drugs, gene drugs can fundamentally solve the problem, thereby achieving a one-time long-term treatment effect for the disease.
GeneCradle has always adhered to the concept and policy of "originating from needs and benefiting patients", and is committed to developing gene therapy drugs that are truly beneficial to patients and continuously promoting the clinical accessibility of gene therapy drugs for rare diseases. Today, which is exclusively for the rare disease patient community, we look forward to embracing a brighter and better tomorrow with the rare disease patient community.
Beijing GeneCradle Technology Co., Ltd. is a national high-tech enterprise with AAV vector delivery technology-mediated gene therapy drug development as its core business. Its mission is to promote China's rare disease gene drugs from basic to clinical and market, benefiting patients and families. The company focuses on the development of gene therapy drugs in the fields of hereditary neuromuscular diseases, genetic metabolic diseases, lysosomal diseases and ophthalmic diseases. By promoting the development and clinical application of rare disease gene drugs, it has a deeper understanding of life and health, and has transitioned gene therapy technology and products from rare diseases to the treatment and rehabilitation of chronic diseases and other major diseases.